The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A Sayer, Edgar A Otto, John F O'Toole, Gudrun Nurnberg, Michael A Kennedy, Christian Becker, Hans Christian Hennies, Juliana Helou, Massimo Attanasio, Blake V Fausett, Boris Utsch, Hemant Khanna, Yan Liu, Iain Drummond, Isao Kawakami, Takehiro Kusakabe, Motoyuki Tsuda, Li Ma, Hwankyu Lee, Ronald G LarsonSusan J Allen, Christopher J Wilkinson, Erich A Nigg, Chengchao Shou, Concepcion Lillo, David S Williams, Bernd Hoppe, Markus J Kemper, Thomas Neuhaus, Melissa A Parisi, Ian A Glass, Marianne Petry, Andreas Kispert, Joachim Gloy, Athina Ganner, Gerd Walz, Xueliang Zhu, Daniel Goldman, Peter Nurnberg, Anand Swaroop, Michel R Leroux, Friedhelm Hildebrandt

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)674-81
Number of pages8
JournalNature Genetics
Volume38
Issue number6
DOIs
Publication statusPublished - 2006

Keywords

  • Activating Transcription Factor 4
  • Animals
  • Antigens, Neoplasm
  • Female
  • Genetic Linkage
  • Humans
  • In Situ Hybridization
  • Male
  • Mutation
  • Neoplasm Proteins
  • Pedigree
  • Syndrome
  • Zebrafish

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